APOL1 Renal Risk Variants and Sickle Cell Trait Associations With Reduced Kidney Function in a Large Congolese

Mannix Imani Masimango1,2, Michel Jadoul2, Elizabeth A Binns-Roemer3

  • 1Department of Internal Medicine, Hôpital Provincial Général de Référence de Bukavu, Université Catholique de Bukavu, Bukavu, Democratic Republic of the Congo.

Insights

Genetic variants in APOL1 and sickle cell trait (SCT) are linked to chronic kidney disease (CKD) in the Democratic Republic of Congo. APOL1 high-risk genotypes and SCT significantly impact kidney function and increase CKD risk.

Area of Science:

  • Genetics
  • Nephrology
  • Population Health

Background:

  • APOL1, GSTM1 risk variants, and sickle cell trait (SCT) are associated with chronic kidney disease (CKD) in African Americans.
  • Evidence linking these genetic factors to CKD in sub-Saharan Africa (SSA) populations is limited.

Purpose of the Study:

  • To evaluate the prevalence of APOL1 risk variants, GSTM1 genotypes, and SCT in South-Kivu, DR Congo.
  • To assess the association of these variants with estimated glomerular filtration rate (eGFR), albuminuria, and CKD in urban and rural adults.

Main Methods:

  • Cross-sectional study involving 1317 adults from urban and rural South-Kivu, DR Congo.
  • Evaluation of APOL1 (high-risk vs. low-risk genotypes), SCT carriage, and GSTM1 (active vs. null) genotypes.
  • Analysis of associations with eGFR, albuminuria, and CKD prevalence.

Main Results:

  • APOL1 high-risk genotype frequency was 3.2%, SCT 3.8%, and GSTM1 null allele 51.2%.
  • APOL1 high-risk genotype was associated with lower eGFR (OR=4).
  • SCT was linked to lower eGFR, higher albuminuria, and increased CKD risk (2.4x).
  • APOL1 high-risk and SCT showed synergistic effects on reduced eGFR.

Conclusions:

  • APOL1 variants and SCT significantly impact renal outcomes in the Democratic Republic of Congo.
  • Findings underscore the importance of genetic factors in CKD pathogenesis in SSA.
  • Further genetic studies in SSA populations are warranted.
Abstract

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